Congenital myopathy

Gene: FLNC

Amber List (moderate evidence)

FLNC (filamin C)
EnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. Four unrelated patients with cardiomyopathy, arthrogryposis, and a limb-girdle pattern of skeletal muscle weakness at birth or during the first year of life harboured de novo missense variants; three of these patients had p.Ala1186Val.
Kiselev A, Vaz R, Knyazeva A, et al. : De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Hum Mutat. 2018;39(9):1161–72. 10.1002/humu.23559
Created: 4 Dec 2019, 1:12 p.m. | Last Modified: 4 Dec 2019, 1:12 p.m.
Panel Version: 1.208

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

Phenotypes
Myopathy, myofibrillar, 5, 609524

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: earliest onset in teens.
Created: 3 Feb 2017, noon
Muscle phenotypes outlined above generally of adult onset (earliest in teens) so not relevant for congenital myopathy.
Created: 30 Jan 2017, 4:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, familial hypertrophic 26; Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, distal, 4, OMIM:614065
  • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
  • Myopathy, myofibrillar, 5, OMIM:609524
  • Myopathy, myofibrillar, 5, MONDO:0012289
OMIM
102565
Clinvar variants
Variants in FLNC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy to Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289

4 Dec 2019, Gel status: 2

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review was added to FLNC. Source NHS GMS was added to FLNC.

4 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: flnc has been classified as Amber List (Moderate Evidence).

4 Dec 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FLNC were set to

4 Dec 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Myopathy, myofibrillar, 5, 609524; early-onset restrictive cardiomyopathy and congenital myopathy

4 Dec 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FLNC was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen